Gregory M Pastores

Gregory M Pastores

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Gregory M Pastores

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Metallosis mimicking a metabolic disorder: a case report.

Mol Genet Metab Rep 2018 Dec 25;17:38-41. Epub 2018 Sep 25.

National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1016/j.ymgmr.2018.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159344PMC
December 2018

The benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital.

Ir J Med Sci 2018 Nov 9;187(4):1073-1076. Epub 2018 Mar 9.

Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, 57 Eccles Street, Dublin, Ireland.

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http://dx.doi.org/10.1007/s11845-018-1784-3DOI Listing
November 2018

Extensive Right Ventricular Scarring on Cardiac MRI in Danon's Cardiomyopathy.

Heart Lung Circ 2018 Nov 23;27(11):e113-e114. Epub 2018 Jun 23.

Radiology, St. Vincent's University Hospital, Dublin, Ireland; UCD School of Medicine, University College Dublin, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2018.05.192DOI Listing
November 2018

Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.

Mol Genet Metab Rep 2018 Sep 22;16:31-35. Epub 2018 Jun 22.

National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1016/j.ymgmr.2018.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019692PMC
September 2018

Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease.

EBioMedicine 2018 Feb 31;28:251-260. Epub 2018 Jan 31.

Department of Orthopaedic Surgery, New York University Medical Center, New York, NY, 10003, USA; Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2018.01.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835567PMC
February 2018

Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease.

Orphanet J Rare Dis 2018 02 23;13(1):36. Epub 2018 Feb 23.

University College Dublin and the National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1186/s13023-018-0776-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824466PMC
February 2018

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.

JIMD Rep 2018 3;41:29-36. Epub 2018 Jan 3.

National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1007/8904_2017_81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122047PMC
January 2018

Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease.

Mol Genet Metab 2017 Jan - Feb;120(1-2):111-115. Epub 2016 Aug 23.

Shaare Zedek Medical Center and Hadassah Medical School, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2016.08.005DOI Listing
August 2017

Spotlight on taliglucerase alfa in the treatment of pediatric patients with type 1 Gaucher disease.

Pediatric Health Med Ther 2017 16;8:73-81. Epub 2017 Jun 16.

National Center for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.2147/PHMT.S93634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774592PMC
June 2017

Lysosomal Storage Disorders and Malignancy.

Diseases 2017 Feb 27;5(1). Epub 2017 Feb 27.

Royal Free London NHS Foundation Trust, University College London, London NW3 2QG, UK.

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http://dx.doi.org/10.3390/diseases5010008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456337PMC
February 2017

Glucosylsphingosine is a key biomarker of Gaucher disease.

Am J Hematol 2016 Nov 8;91(11):1082-1089. Epub 2016 Aug 8.

Department of Internal Medicine & Pediatrics, Yale University School of Medicine, New Haven, Connecticut.

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http://doi.wiley.com/10.1002/ajh.24491
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http://dx.doi.org/10.1002/ajh.24491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5234703PMC
November 2016

Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease.

Blood Cells Mol Dis 2016 07 5;59:37-43. Epub 2016 Mar 5.

Shaare Zedek Medical Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2016.03.004DOI Listing
July 2016

Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.

J Clin Neurosci 2016 Jun 5;28:185-6. Epub 2016 Feb 5.

Department of Neurology, Mount Sinai Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USA; Department of Neurology, Mount Sinai School of Medicine, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2015.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856562PMC
June 2016

Clinical course and prognosis in patients with Gaucher disease and parkinsonism.

Neurol Genet 2016 Apr 4;2(2):e57. Epub 2016 Mar 4.

Section on Molecular Neurogenetics (G.L., J.K., E.W., D.C., C.G., N.T., O.G.-A., E.S.), Medical Genetics Branch, NHGRI, NIH, Bethesda, MD; Yale School of Medicine (P.K.M.), New Haven, CT; Mater Misericordiae University Hospital (G.M.P.), Dublin, Ireland; Gaucher Clinic (A.Z.), Shaare Zedek Medical Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel; and Lysosomal Disorders Research & Treatment Unit (O.G.-A.), O & O Alpan LLC, Fairfax, VA.

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http://dx.doi.org/10.1212/NXG.0000000000000057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830189PMC
April 2016

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Mol Genet Metab 2016 Feb 1;117(2):164-71. Epub 2015 Jun 1.

Department of Medicine/National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1016/j.ymgme.2015.05.012DOI Listing
February 2016

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.

PLoS One 2015 1;10(5):e0125204. Epub 2015 May 1.

Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, United States of America; Gertrude H. Sergievsky Center, Columbia University, New York, New York, United States of America; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, United States of America; Center for Human Genetics, Columbia University, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0125204PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416714PMC
January 2016

Eliglustat for Gaucher's disease: trippingly on the tongue.

Lancet 2015 Jun 26;385(9985):2328-30. Epub 2015 Mar 26.

Department of Medicine, National Centre for Inherited Metabolic Diseases, Mater Misericordiae University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1016/S0140-6736(15)60206-9DOI Listing
June 2015

Non-neuronopathic lysosomal storage disorders: Disease spectrum and treatments.

Best Pract Res Clin Endocrinol Metab 2015 Mar 27;29(2):173-82. Epub 2014 Aug 27.

Department of Haematology, Royal Free London NHS Foundation Trust and University College London, United Kingdom.

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http://dx.doi.org/10.1016/j.beem.2014.08.005DOI Listing
March 2015

Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment.

Blood Cells Mol Dis 2014 Dec 15;53(4):274-6. Epub 2014 May 15.

Genzyme, a Sanofi company, 500 Kendall Street, Cambridge, MA, 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2014.04.002DOI Listing
December 2014

Clinical neurogenetics: neuropathic lysosomal storage disorders.

Neurol Clin 2013 Nov;31(4):1051-71

Departments of Neurology and Pediatrics, New York University School of Medicine, NYU at Rivergate, 403 East 34th Street, 2nd Floor, New York, NY 10016, USA; Neurogenetics Laboratory, New York University School of Medicine, NYU at Rivergate, 403 East 34th Street, 2nd Floor, New York, NY 10016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ncl.2013.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988112PMC
November 2013

Orphan drug development.

Pediatr Endocrinol Rev 2013 Nov;11 Suppl 1:64-7

Department of Neurology and Pediatrics, NYU School of Medicine, New York, NY, USA.

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November 2013

Enzyme replacement therapy for Anderson-Fabry disease.

Cochrane Database Syst Rev 2013 Feb 28(2):CD006663. Epub 2013 Feb 28.

Botucatu Medical School, Universidade Estadual Paulista (UNESP), Botucatu, Brazil.

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http://dx.doi.org/10.1002/14651858.CD006663.pub3DOI Listing
February 2013

Parkinson's disease in patients and obligate carriers of Gaucher disease.

Parkinsonism Relat Disord 2013 Jan 31;19(1):129-31. Epub 2012 Aug 31.

New York University School of Medicine, New York, NY 10016, USA.

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http://dx.doi.org/10.1016/j.parkreldis.2012.06.023DOI Listing
January 2013

Haematological manifestations and complications of Gaucher disease.

Curr Opin Hematol 2013 Jan;20(1):41-7

Department of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital and University College Medical School, London, UK.

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http://dx.doi.org/10.1097/MOH.0b013e32835a9148DOI Listing
January 2013

Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease.

J Med Genet 2012 Mar 7;49(3):212-20. Epub 2012 Feb 7.

Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Campus, University College London, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100407DOI Listing
March 2012

Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease.

Mol Genet Metab 2011 Nov 1;104(3):301-7. Epub 2011 Jul 1.

Department of Internal Medicine, Lozano Blesa Universitary Hospital, Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.021DOI Listing
November 2011

Synovium, synergy and serendipity.

J Inherit Metab Dis 2011 Oct;34(5):981-2

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http://dx.doi.org/10.1007/s10545-011-9353-1DOI Listing
October 2011

Gastrointestinal disturbances and their management in miglustat-treated patients.

J Inherit Metab Dis 2011 Oct 21;34(5):991-1001. Epub 2011 Jul 21.

Reference Centre for Lysosomal Diseases, Beaujon Hospital, Clichy, France.

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http://dx.doi.org/10.1007/s10545-011-9368-7DOI Listing
October 2011

A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase.

Biologics 2009 12;3:459-68. Epub 2009 Oct 12.

Department of Surgery, McMaster University, McMaster Institute of Urology, Hamilton, Ontario, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2763316PMC
July 2011

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity.

J Inherit Metab Dis 2011 Apr 3;34(2):429-37. Epub 2011 Feb 3.

Department of Pediatrics, National Gaucher Disease Treatment Center, Yale University School of Medicine, New Haven, CT 06562, USA.

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http://dx.doi.org/10.1007/s10545-010-9271-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3186206PMC
April 2011

Velaglucerase alfa as a therapeutic option for Gaucher disease.

Expert Rev Endocrinol Metab 2011 Jan;6(1):13-20

a Departments of Neurology and Pediatrics, New York University School of Medicine, 403 East 34th Street, 2nd floor, New York, NY 10016, USA.

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http://dx.doi.org/10.1586/eem.10.74DOI Listing
January 2011

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.

J Inherit Metab Dis 2010 Dec 4;33(6):769-74. Epub 2010 Aug 4.

Department of Pediatrics, National Gaucher Disease Treatment Center, Yale University School of Medicine, 333 Cedar Street, LMP 4093, New Haven, CT 06562, USA.

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http://dx.doi.org/10.1007/s10545-010-9175-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3008694PMC
December 2010

The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches.

Wien Med Wochenschr 2010 Dec;160(23-24):594-9

Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK.

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http://dx.doi.org/10.1007/s10354-010-0864-4DOI Listing
December 2010

Neuropathic Gaucher disease.

Wien Med Wochenschr 2010 Dec;160(23-24):605-8

Departments of Neurology and Pediatrics, New York University School of Medicine, New York, USA.

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http://dx.doi.org/10.1007/s10354-010-0850-xDOI Listing
December 2010

Therapeutic goals in the treatment of Fabry disease.

Genet Med 2010 Nov;12(11):713-20

The Royal Free Hospital, University College London School of Medicine, London, United Kingdom.

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http://dx.doi.org/10.1097/GIM.0b013e3181f6e676DOI Listing
November 2010

Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.

J Pediatr 2010 May 25;156(5):832-7, 837.e1. Epub 2010 Jan 25.

Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.

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http://dx.doi.org/10.1016/j.jpeds.2009.11.007DOI Listing
May 2010

Enzyme replacement therapy for Anderson-Fabry disease.

Cochrane Database Syst Rev 2010 May 12(5):CD006663. Epub 2010 May 12.

Department of Surgery, St. Joseph's Healthcare Hamilton, McMaster University, 50 Charlton Avenue East, Hamilton, ON, Canada, L8N 4A6.

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http://dx.doi.org/10.1002/14651858.CD006663.pub2DOI Listing
May 2010

Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease.

Curr Opin Investig Drugs 2010 Apr;11(4):472-8

New York University School of Medicine, Departments of Neurology and Pediatrics, New York, NY 10016, USA.

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April 2010

Leukoencephalopathies and leukodystrophies.

Continuum (Minneap Minn) 2010 Apr;16(2 Dementia):102-19

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http://dx.doi.org/10.1212/01.CON.0000368214.63964.faDOI Listing
April 2010

Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease.

BioDrugs 2010 Feb;24(1):41-7

Department of Neurology, New York University School of Medicine, New York, New York 10016, USA.

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http://dx.doi.org/10.2165/11318540-000000000-00000DOI Listing
February 2010

Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.

Metab Brain Dis 2009 Sep 21;24(3):493-500. Epub 2009 Aug 21.

Postgraduate Program in Genetics and Molecular Biology, Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://link.springer.com/10.1007/s11011-009-9151-8
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http://dx.doi.org/10.1007/s11011-009-9151-8DOI Listing
September 2009

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.

Genet Med 2009 Jun;11(6):425-33

Department of Neurology, University Hospitals Case Medical Center, Cleveland, Ohio 44106-5098, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181a1b5c5DOI Listing
June 2009

Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.

J Child Neurol 2009 May 16;24(5):618-24. Epub 2009 Jan 16.

Institute for Child Development and Pediatric Neurology Unit, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1177/0883073808327833DOI Listing
May 2009

To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model.

Kidney Int 2009 Feb;75(4):351-3

Department of Neurology, New York University School of Medicine, New York, New York 10016, USA.

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http://dx.doi.org/10.1038/ki.2008.606DOI Listing
February 2009

Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?

Genet Med 2009 Feb;11(2):90-1

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181928f6aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2764305PMC
February 2009

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

Pediatrics 2009 Jan;123(1):229-40

University of British Columbia, Department of Medical Genetics, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1542/peds.2007-3847DOI Listing
January 2009

Goal-oriented therapy with miglustat in Gaucher disease.

Curr Med Res Opin 2009 Jan;25(1):23-37

Neurology and Pediatrics, New York University School of Medicine, New York, NY 10016, USA.

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http://dx.doi.org/10.1185/03007990802576518DOI Listing
January 2009

Life expectancy in Gaucher disease type 1.

Am J Hematol 2008 Dec;83(12):896-900

University Research Foundation for Lysosomal Storage Diseases, Northwest Oncology Hematology Associates PA, 8170 Royal Palm Boulevard, Coral Springs, Florida 33065, USA.

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http://dx.doi.org/10.1002/ajh.21305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743399PMC
December 2008

Musculoskeletal complications encountered in the lysosomal storage disorders.

Best Pract Res Clin Rheumatol 2008 Oct;22(5):937-47

New York University School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1016/j.berh.2008.09.005DOI Listing
October 2008

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Eur J Hum Genet 2008 Aug 27;16(8):875-9. Epub 2008 Feb 27.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2008.34DOI Listing
August 2008

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.

Muscle Nerve 2008 Aug;38(2):1012-5

Neuromuscular Division, Department of Neurology, Neurological Institute, University Hospitals Case Medical Center, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/mus.21061DOI Listing
August 2008

Fidelity of gamma-glutamyl transferase (GGT) in differentiating skeletal muscle from liver damage.

J Child Neurol 2008 Jul 19;23(7):748-51. Epub 2008 Mar 19.

Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1177/0883073808314365DOI Listing
July 2008

Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I.

Expert Opin Biol Ther 2008 Jul;8(7):1003-9

New York University School of Medicine, 403 East 34th Street, 2nd Floor, New York, NY 10016, USA.

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http://dx.doi.org/10.1517/14712598.8.7.1003 DOI Listing
July 2008

Agalsidase alfa (Replagal) in the treatment of Anderson-Fabry disease.

Biologics 2007 Sep;1(3):291-300

Neurogenetics Division, Department of Neurology and Pediatrics, New York University School of Medicine, New York, NY 10016, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721310PMC
September 2007

Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies.

Clin Ther 2007 Aug;29(8):1645-54

Department of Neurology and Pediatrics, New York University School of Medicine, New York, New York, USA.

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http://dx.doi.org/10.1016/j.clinthera.2007.08.006DOI Listing
August 2007

Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease.

Nephrol Dial Transplant 2007 Jul 29;22(7):1920-5. Epub 2007 Mar 29.

Department of Neurology, New York University School of Medicine, 403 East 34th Street, New York, NY 10016, and St. Louis Children's Hospital, MO, USA.

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https://academic.oup.com/ndt/article-lookup/doi/10.1093/ndt/
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http://dx.doi.org/10.1093/ndt/gfm096DOI Listing
July 2007

A chaperone-mediated approach to enzyme enhancement as a therapeutic option for the lysosomal storage disorders.

Drugs R D 2006 ;7(6):339-48

Neurogenetics Unit, Departments of Neurology and Pediatrics, New York University School of Medicine, New York, New York 10016, USA.

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http://dx.doi.org/10.2165/00126839-200607060-00003DOI Listing
February 2007

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease.

J Bone Miner Res 2007 Jan;22(1):119-26

Cincinnati Children's Hospital Research Foundation, Ohio, USA.

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http://dx.doi.org/10.1359/jbmr.061004DOI Listing
January 2007

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Adv Exp Med Biol 2006 ;576:165-73; discussion 361-3

Department of Neurology, New York University School of Medicine 550 First Avenue, New York, NY 10016, USA.

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http://dx.doi.org/10.1007/0-387-30172-0_11DOI Listing
August 2006

CNS pathology and vascular/circulatory abnormalities in Fabry disease.

Acta Paediatr Suppl 2006 Apr;95(451):55-6

Department of Neurology, New York University School of Medicine, New York, USA.

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http://dx.doi.org/10.1080/08035320600619153DOI Listing
April 2006

Miglustat: substrate reduction therapy for lysosomal storage disorders associated with primary central nervous system involvement.

Recent Pat CNS Drug Discov 2006 Jan;1(1):77-82

Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, New York, NY, USA.

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January 2006

Current and emerging therapies for the lysosomal storage disorders.

Expert Opin Emerg Drugs 2005 Nov;10(4):891-902

Division of Neurogenetics, Department of Neurology, New York University School of Medicine, New York, NY 10016, USA.

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http://dx.doi.org/10.1517/14728214.10.4.891DOI Listing
November 2005

MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis.

AJNR Am J Neuroradiol 2005 Sep;26(8):2037-42

Department of Radiology, New York University, New York, NY 10016, USA.

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September 2005

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment.

Clin Ther 2005 Aug;27(8):1215-27

Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, NY 10016, USA.

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http://dx.doi.org/10.1016/j.clinthera.2005.08.004DOI Listing
August 2005

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Genet Med 2005 Feb;7(2):119-23

Division of Neurogenetics, Department of Neurology, New York University School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.109701.GIM.0000154300.84107.75DOI Listing
February 2005